Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Phytanic acid  (3)
  • Intravenous radionuclide cystography  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 133-142 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Phytanic acid ; Dietary treatment ; Peroxisomes ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26∶C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26∶C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442210
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 143-147 
    Details
    ISSN: 1432-1076
    Keywords: Pristanic acid ; Phytanic acid ; Peroxisome ; β-oxidation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its α-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the α-oxidation of phytanic acid, but is indicative of a block in the peroxisomal β-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442211
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 507-510 
    Details
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Prenatal diagnosis ; Phytanic acid ; Amniocytes ; Chorionic villous cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429053
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    “Stasis” — A test for vesico-ureteric orifice competence in children with reflux (1980)
    Springer
    Pediatric radiology 9 (1980), S. 213-215 
    Details
    ISSN: 1432-1998
    Keywords: Intravenous radionuclide cystography ; Incompetent ureteric orifices ; Vesico-renal reflux
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Intravenous radionuclide cystography (IVRNC) with one injection of 99m-Tc-DTPA measures renal function and detects vesico-renal reflux [1, 2,3]. This paper describes a possible means of detecting incompetent ureteric orifices during IVRNC examinations. In some patients a hold-up of material in the renal areas (stasis) was observed which suddenly cleared at micturition. A prospective study of 58 patients who had IVRNC and cystoscopy within 28 days of each other revealed that 76.3% had anatomically abnormal ureteric orifices on the same side as the stasis. This contrasted with only 12.8% of abnormal ureteric orfices found in patients not showing stasis (p〈0.005). As incompetent ureteric orifices are recognised as the major aetiological factor in vesico-renal reflux [4, 5, 6] this additional information gained at IVRNC could be of clinical use and perhaps avoid some cystoscopies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01092947
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Radionuclide imaging for vesico-renal reflux using intravenous 99mTc-D. T. P. A. (1979)
    Springer
    Pediatric radiology 8 (1979), S. 165-167 
    Details
    ISSN: 1432-1998
    Keywords: Gamma camera renography ; Vesico-ureteral reflux ; Intravenous radionuclide cystography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This study shows that Radionuclide imaging provides a simple method for detecting vesico-renal reflux in children, when an intravenous dose of 99mTc-D. T. P. A. is used as radioactive tracer. Forty-eight patients have been studied, of these twenty-eight also had intravenous pyelography with post-micturition films, micturating cystography, and cystoscopy. In this group of 28 patients the radionuclide imaging technique detected 25 refluxing ureters and 9 cases of bilateral vesico-renal reflux. Micturating cystography detected 12 refluxing ureters and only 3 cases were bilateral. Cystoscopy revealed 20 abnormal ureteric orifices and 6 patients had bilaterally abnormal orifices. Radionuclide imaging agreed with both the micturating cystograms and cystoscopic findings that reflux was occuring in 6 ureters. Radionuclide imaging agreed with the impression at cystoscopy that reflux was present in 18 ureters. Only 6 of the ureters diagnosed by micturating cystography as having reflux had abnormal ureteric openings at cystoscopy. The intravenous radionuclide imaging technique avoids the unpleasantness of catheterisation and its attendant risk of introducing infection. A lower dose of radiation is received than during radiological techniques. A renogram is obtained as part of the test. We believe this intravenous radionuclide imaging technique is a more “physiologically correct” test for vesico-renal reflux than any of the methods using catheterisation. Its limitations are that it is not so easy to use in hyperactive toddlers, nor does it give the anatomical definition that radiological techniques provide although improvements are expected with the latest gamma cameras and their associated equipment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00973827
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...